Folate Metabolism Gene Polymorphisms and Risk for Down Syndrome Offspring in Turkish Women

Erdal, Mehmet Emin/0000-0002-6191-2930; Soylemez, Fatma/0000-0002-1939-8691; yildirim, didem derici/0000-0001-7709-6133; derici, didem/0000-0001-7709-6133; Ay, Mustafa Ertan/0000-0002-6152-7450;WOS: 000352344400006PubMed: 25671679Aims: Down syndrome (DS) is the most common chromosomal abnormality. Many studies have assessed the association between maternal gene polymorphisms involved in folate metabolism and the risk of having a DS offspring, but data are conflicting. Six common polymorphisms in folate-metabolizing genes were analayzed to determine possible risk factors for a child to be born having DS (DS mothers); these samples were taken from 47 Turkish mothers having DS children (case group) and 49 control mothers. Investigated polymorphisms include methylenetetrahydrofolate reductase (MTHFR) C677T (rs1801133), A1298C (rs1801131), methionine synthase reductase (MTRR) A66G (rs1801394), methylenetetrahydrofolate dehydrogenase (MTHFD1) G1958A (rs2236225), reduced folate carrier (RFC1) A80G (rs1051266), and cystathionine beta-synthase (CBS) 844ins68. Results: The frequency of the MTHFR 677C allele in DS mothers (79.8%) was significantly higher than in controls (66.3%), with a 0.499-fold increased risk of having a DS offspring (p=0.038 and 95% confidence interval [CI], 0.259-0.961). Mothers with the MTHFD1 1958A allele had a 1.880-fold increased risk of having a child with DS (p=0.031 and 95% CI, 1.060-3.335). No significant association was found for the other polymorphic variants in this study. Gene-gene interactions were not statistically significant. Conclusion: Polymorphic variants of the enzymes involved in folate metabolism may play an important role in determining the susceptibility of having a DS offspring. The gene-nutrition, gene-gene interactions and ethnicity are important variables to be considered in future studies.Mersin University of Scientific FoundationMersin University [BAP-TF TTB 2009-2]This study was supported by the Mersin University of Scientific Foundation (BAP-TF TTB 2009-2). Ethics committee consent was obtained from the Local Ethics Committee of Mersin University. The authors thank all those who participated in the study, the IZEM Rehabilitation Center, particularly all the personnel at the IZEM and Metin Ugur Sarikaya Rehabilitation Center in Mersin

Lack of association of DRD3 and CNR1 polymorphisms with premenstrual dysphoric disorders

Background: Premenstrual dysphoric disorder (PMDD) is a mood disorder characterized with physical and affective symptoms during the luteal phase of susceptible women. Objective: The aim of this study was to investigate the association of Dopamine D3 receptor (DRD3) polymorphism, and Cannabinoid receptor Type 1 (CNR1) polymorphism with PMDD. Materials and Methods: Fifty one participants with documented PMDD according to the DSM IV criteria and 51 healthy controls were included in this cross sectional study. Symptom severity was measured with daily self-rating, monthly premenstrual assessment forms and psychiatric interviews. The genotyping of DRD3 receptor and Cannabinoid type 1 receptors were performed using Taqmanfluorogenic assay method. Results: Distribution of DRD3 and CNR1 polymorphism was not different between patients and controls. Conclusion: These findings do not support a major role of DRD3, and CNR1 polymorphisms in contributing to susceptibility to premenstrual dysphoric disorder

Effects of electromagnetic radiation on neurogenesis and gene expression in amniocytes

The aim of the study was to investigate the genetic effects of commonly used radiofrequency on the amniocytes of pregnant women by examining the changes in the expression of genes related to signal transduction and neurogenesis induced by electromagnetic fields of radiofrequencies of 1800 and 2100 MHz by real-time PCR. Upon exposure of the amniocytes to electromagnetic radiation of 2100 MHz at high field strength, the expression levels of genes with important functions in the Wnt signaling pathways as well as neurogenesis-related genes were increased. The findings suggest that radiofrequency at high field strengths can have genotoxic effects during pregnancy.</p